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Characterization of a novel KRAS mutation identified in Noonan syndrome.
Razzaque MA, Komoike Y, Nishizawa T, Inai K, Furutani M, Higashinakagawa T, Matsuoka R. Razzaque MA, et al. Among authors: matsuoka r. Am J Med Genet A. 2012 Mar;158A(3):524-32. doi: 10.1002/ajmg.a.34419. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302539
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. Razzaque MA, et al. Among authors: matsuoka r. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603482
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD. Dhandapany PS, et al. Among authors: matsuoka r. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777450 Free PMC article.
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R. Hirayama-Yamada K, et al. Among authors: matsuoka r. Am J Med Genet A. 2005 May 15;135(1):47-52. doi: 10.1002/ajmg.a.30684. Am J Med Genet A. 2005. PMID: 15810002
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.
Chida A, Inai K, Sato H, Shimada E, Nishizawa T, Shimada M, Furutani M, Furutani Y, Kawamura Y, Sugimoto M, Ishihara J, Fujiwara M, Soga T, Kawana M, Fuji S, Tateno S, Kuraishi K, Kogaki S, Nishimura M, Ayusawa M, Ichida F, Yamazawa H, Matsuoka R, Nonoyama S, Nakanishi T. Chida A, et al. Among authors: matsuoka r. Heart Vessels. 2017 Jun;32(6):700-707. doi: 10.1007/s00380-016-0920-0. Epub 2016 Nov 24. Heart Vessels. 2017. PMID: 27885498
612 results